LINE-1 retrotransposon-mediated DNA transductions in endometriosis associated ovarian cancers

Zhouchunyang Xia, Dawn R Cochrane, Michael S Anglesio, Yi Kan Wang, Tayyebeh Nazeran, Tayyebeh M. Nazeran, Basile Tessier‐Cloutier, Basile Tessier-Cloutier, Melissa K McConechy, Janine Senz, Amy Lum, Ali Bashashati, Sohrab P Shah, David G Huntsman
Gynecologic oncology · 2017 · vol. 147(3) , pp. 642–647 · doi:10.1016/j.ygyno.2017.09.032 · PMID:29032825 · W2763283211
article OA: green CC0 ⤵ 3 in-corpus citations
🔓 Open OA copy Full text JSON View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06+body, 2026-06-09 ⓘ

LINE-1 mediated transductions within the TTC28 gene were found in a majority of endometriosis-associated ovarian cancers, occurring early in development alongside driver mutations.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-19 · read from full text ⓘ

This study investigated whether LINE-1 (L1) retrotransposon-mediated 3’ transductions involving the TTC28 gene occur in endometriosis-associated ovarian cancers, focusing on endometrioid (ENOC) and clear cell ovarian carcinoma (CCOC) cases. Using whole genome sequencing of 29 ENOC and 35 CCOC samples, the authors detected active TTC28-L1 transductions in 34% and 31% of cases, respectively, then assessed FFPE tissue blocks from multiple anatomical tumor sites using PCR and capillary sequencing and compared these patterns with SNVs/frame-shift mutations from multiplex PCR and next generation sequencing. TTC28-L1 transductions were found in at least three tumor samplings in all tested cases and were present in all tumor sites in 71% (5/7) of cases, with recurrent driver mutations (KRAS, PIK3CA, CTNNB1, ARID1A, PTEN) present across all sites and other variants varying by allelic frequency. The authors conclude that these transductions, together with classical driver mutations, appear near ubiquitous across tumor sites and may reflect early activation, while the study is limited by testing transduction presence in a small subset of cases and sites. This paper is centrally about endometriosis-related biology—specifically, LINE-1 TTC28-mediated transductions in endometriosis-associated ovarian cancers.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Full text 4,975 characters · extracted from oa-html · 8 sections · click to expand

Abstract

Objective: Endometrioid (ENOC) and clear cell ovarian carcinoma (CCOC) share a common precursor lesion, endometriosis, hence the designation endometriosis associated ovarian cancers (EAOC). Long interspersed nuclear element 1 (LINE-1 or L1), is a family of mobile genetic elements activated in many cancers capable of moving neighboring DNA through 3’ transductions. Here we investigated the involvement of specific L1-mediated transductions in EAOCs.

Methods

Through whole genome sequencing, we identified active L1-mediated transductions originating within the TTC28 gene in 34% (10/29) of ENOC and 31% (11/35) of CCOC cases. We used PCR and capillary sequencing to assess the presence of specific TTC28-L1 transductions in formalin-fixed paraffin-embedded (FFPE) blocks from six different anatomical sites (five tumors and one normal control) for four ENOC and three CCOC cases, and compared the results to the presence of single nucleotide variations (SNVs)/frame shift (fs) mutations detected using multiplex PCR and next generation sequencing.

Results

TTC28-L1 mediated transductions were identified in at least three tumor samplings in all cases, and were present in all five tumor samplings in 5/7 (71%) cases. In these cases, KRAS, PIK3CA, CTNNB1, ARID1A, and PTEN mutations were found across all tumor sites whilst other selected SNV/fs mutations of unknown significance were present at varying allelic frequencies.

Conclusion

The TTC28-L1 transductions along with classical driver mutations were near ubiquitous across the tumors, suggesting that L1 activation likely occurred early in the development of EAOCs. TTC28-L1 transductions could potentially be used to determine clonal relationships and to track ovarian cancer progression. Item Metadata | Title | LINE-1 retrotransposon-mediated DNA transductions in endometriosis associated 1 ovarian cancers | | Creator | | | Publisher | Elsevier | | Date Issued | 2017-10-09 | | Description |

Objective

Endometrioid (ENOC) and clear cell ovarian carcinoma (CCOC) share a common precursor lesion, endometriosis, hence the designation endometriosis associated ovarian cancers (EAOC). Long interspersed nuclear element 1 (LINE-1 or L1), is a family of mobile genetic elements activated in many cancers capable of moving neighboring DNA through 3’ transductions. Here we investigated the involvement of specific L1-mediated transductions in EAOCs.

Methods

Through whole genome sequencing, we identified active L1-mediated transductions originating within the TTC28 gene in 34% (10/29) of ENOC and 31% (11/35) of CCOC cases. We used PCR and capillary sequencing to assess the presence of specific TTC28-L1 transductions in formalin-fixed paraffin-embedded (FFPE) blocks from six different anatomical sites (five tumors and one normal control) for four ENOC and three CCOC cases, and compared the results to the presence of single nucleotide variations (SNVs)/frame shift (fs) mutations detected using multiplex PCR and next generation sequencing.

Results

TTC28-L1 mediated transductions were identified in at least three tumor samplings in all cases, and were present in all five tumor samplings in 5/7 (71%) cases. In these cases, KRAS, PIK3CA, CTNNB1, ARID1A, and PTEN mutations were found across all tumor sites whilst other selected SNV/fs mutations of unknown significance were present at varying allelic frequencies.

Conclusion

The TTC28-L1 transductions along with classical driver mutations were near ubiquitous across the tumors, suggesting that L1 activation likely occurred early in the development of EAOCs. TTC28-L1 transductions could potentially be used to determine clonal relationships and to track ovarian cancer progression. | | Genre | | | Type | | | Language | eng | | Date Available | 2018-10-08 | | Provider | Vancouver : University of British Columbia Library | | Rights | Attribution-NonCommercial-NoDerivatives 4.0 International | | DOI | 10.14288/1.0357358 | | URI | | | Affiliation | | | Citation | Z. Xia, et al., LINE-1 retrotransposon-mediated DNA transductions in endometriosis associated ovarian cancers, Gynecologic Oncology (2017) | | Publisher DOI | 10.1016/j.ygyno.2017.09.032 | | Peer Review Status | Reviewed | | Scholarly Level | Faculty; Researcher | | Rights URI | | | Aggregated Source Repository | DSpace | Item Media Item Citations and Data Rights Attribution-NonCommercial-NoDerivatives 4.0 International

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-html ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosis

MeSH descriptors

DNA, Neoplasm Endometriosis Long Interspersed Nucleotide Elements Ovarian Neoplasms DNA, Neoplasm Endometriosis Female High-Throughput Nucleotide Sequencing Humans Multiplex Polymerase Chain Reaction Mutation Ovarian Neoplasms Paraffin Embedding Transduction, Genetic

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (27)

Cited by (3)

Source provenance

europepmc
last seen: 2026-06-19T06:14:56.452680+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:20:13.663096+00:00
License: CC0 · commercial use OK